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Joubert Syndrome: Are Kidneys Involved?
Neuropediatrics, 1995Renal involvement was checked in our series of 12 children with Joubert syndrome (JS) who fulfil the cardinal diagnostic features. No patient had clinical evidence of congenital retinal dystrophy. One child had normal kidneys at autopsy and 11 children (aged 1 month to 15 years) had no evidence of cystic kidney changes on ultrasonography.
U. Willi +3 more
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Normal Cognitive Functions in Joubert Syndrome
Neuropediatrics, 2009Developmental delay and subsequent impaired cognitive functions are present in almost all patients with Joubert syndrome (JS). We report on a 20-year-old woman with mild clinical signs of JS (minimal truncal ataxia and oculomotor apraxia) but typical molar tooth sign on neuroimaging, normal full scale (IQ=93), verbal (IQ=93), and performance ...
Andrea Poretti +8 more
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Ophthalmic Features of Joubert Syndrome
Ophthalmology, 2008Joubert syndrome (Online Mendelian Inheritance in Man 213300) is a rare autosomal recessive congenital malformation of the brainstem and cerebellar vermis. Diagnosis is based on characteristic clinical features (e.g., hypotonia, episodic hyperpnea, developmental delay, progressive ataxia) and is confirmed by distinctive neuroradiologic findings (e.g ...
Abdulmajeed AlDrees +6 more
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Anesthetic management in Joubert syndrome
Pediatric Anesthesia, 2004SummaryWe review the anesthetic implications of Joubert syndrome and report that spinal anesthesia under intravenous propofol sedation proved satisfactory for repair of an inguinal hernia in a spontaneously ventilating infant with this syndrome. We caution that anatomical peculiarities may complicate performance of a caudal epidural block and suggest ...
Gregory J. Gordon, Darko J. Vodopich
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MR imaging of Joubert's syndrome
Computerized Medical Imaging and Graphics, 1995Joubert's syndrome is a rare developmental defect of the cerebellar vermis associated with episodic hyperpnea and apnea, abnormal eye movements, and mental retardation. The condition is usually diagnosed clinically during the neonatal period. This article reports nine patients with the syndrome (six males, three females; ages ranging from 2.5 to 9 yrs),
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MRI findings in Joubert syndrome
The Indian Journal of Pediatrics, 2009Joubert syndrome is a very rare autosomal recessive disorder with only 200 cases reported worldwide.Here we report 4 cases of this rare disorder with MRI findings.
Naseer A. Choh +3 more
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Neurobehavioral Development in Joubert Syndrome
Journal of Child Neurology, 1998Research on children with Joubert syndrome has focused on brain structural abnormalities and associated clinical symptoms. The degree of developmental delay has not been objectively reported. We investigated the neurobehavioral development of children with Joubert syndrome through neurobehavioral assessment in the largest sample to date.
Eileen B. Fennell +4 more
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Cytomegalovirus infection and Joubert's syndrome
Computerized Medical Imaging and Graphics, 1997A patient with serologically proven congenital cytomegalovirus (CMV) infection is described with periventricular calcifications on CT. The condition was associated with the typical cerebellar changes of clinicoradiologically proven Joubert's syndrome.
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Variability of Outcome in Joubert Syndrome
Neuropediatrics, 1985Two children with Joubert syndrome are reported. Patient one is the first case with Joubert syndrome where CT-findings are confirmed by autopsy. Until now only three cases with necropsy findings were reported. Patient two shows a remarkable clinical outcome not previously mentioned.
Paul Casaer +5 more
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